Corporate Banner
Satellite Banner
Molecular & Clinical Diagnostics
Scientific Community
Become a Member | Sign in
Home>News>This Article

Discovery Leads to Simple Blood or Urine Test to Identify Blinding Disease

Published: Monday, October 21, 2013
Last Updated: Monday, October 21, 2013
Bookmark and Share
Breakthrough discovery in diagnosing retinitis pigmentosa, a blinding disease that affects about 1 in 4,000 people in the United States.

Rong Wen, M.D., Ph.D., and Byron Lam, M.D., professors of ophthalmology at Bascom Palmer, in collaboration with biochemist Ziqiang Guan, Ph.D., a research associate professor at Duke University Medical School, discovered a key marker in blood and urine that can identify people who carry genetic mutations in a gene responsible for retinitis pigmentosa (RP). “A simple urine test can tell who has the RP-causing mutations,” said Dr. Wen. “Collecting urine is non-invasive and easy, especially from young children.”

The first mutation in this gene, named DHDDS, was identified in 2011 by scientists at the Miller School of Medicine, including Stephan Züchner, M.D., Ph.D., professor and Interim Chair of the Dr. John T. Macdonald Foundation Department of Human Genetics, Wen, Lam, and Margaret A. Pericak-Vance, Ph.D., Director of the John P. Hussman Institute for Human Genomics, on behalf of a South Florida couple who were searching for the reason why three of their children were blinded by RP. Mutations in this gene are more common in people of Ashkenazi Jewish heritage than in the general population. RP is a group of inherited eye diseases that cause progressive vision loss and blindness due to degeneration of the retina, the layer of light-sensitive tissue at the back of the eye.

“It is our vision that every patient who is affected with an inherited eye disease like RP should have access to a clinician who is knowledgeable about the diseases, as well as to affordable diagnostic testing and counseling,” said Lam, director of Bascom Palmer’s hereditary eye disease center. “This diagnostic test is a powerful tool that will help in developing treatments for RP caused by DHDDS mutations.”

The DHDDS mutation has special meaning to the Lidsky family of South Florida. Three of the four Lidsky children, who are now in their 30s, began to lose their sight in their teens. “The fact that a simple blood or urine test can identify the genetic defect that causes this form of RP is very important,” said Betti Lidsky, mother of the children, and a founder of Hope for Vision, a non-profit organization dedicated to promoting retinal research. “I have tremendous hope in the doctors and scientists doing this life-changing work and am confident that RP is one step closer to being treated.”

Further Information
Access to this exclusive content is for Technology Networks Premium members only.

Join Technology Networks Premium for free access to:

  • Exclusive articles
  • Presentations from international conferences
  • Over 2,800+ scientific posters on ePosters
  • More than 4,000+ scientific videos on LabTube
  • 35 community eNewsletters

Sign In

Forgotten your details? Click Here
If you are not a member you can join here

*Please note: By logging into you agree to accept the use of cookies. To find out more about the cookies we use and how to delete them, see our privacy policy.

Scientific News
Mathematical Model Forecasts the Path of Breast Cancer
Chances of survival depend on which organs breast cancer tumors colonize first.
Measuring microRNAs in Blood to Speed Cancer Detection
A simple, ultrasensitive microRNA sensor holds promise for the design of new diagnostic strategies and, potentially, for the prognosis and treatment of pancreatic and other cancers.
Biomedical Imaging at One-Thousandth the Cost
Mathematical modeling enables $100 depth sensor to approximate the measurements of a $100,000 piece of lab equipment.
Improving Outcomes for Lung Cancer and Diabetic Patients
Novel technologies have been developed with support from SBRI Healthcare funding.
New Way of Detecting Cancer
A new RNA test of blood platelets can be used to detect, classify and pinpoint the location of cancer by analysing a sample equivalent to one drop of blood.
Rapid, Portable Ebola Diagnostic
Scientists confirmed the efficiency of the novel Ebola detection method in field trials.
New, Better Test for Prostate Cancer
A study from Karolinska Institutet shows that a new test for prostate cancer is better at detecting aggressive cancer than PSA.
Blood Test Picks Out Prostate Cancer Drug Resistance
Scientists have developed a blood test that can identify key mutations driving resistance to a widely used prostate cancer drug, and identify in advance patients who will not respond to treatment.
Antibody Targets Key Cancer Marker
University of Wisconsin-Madison researchers have created a molecular structure that attaches to a molecule on highly aggressive brain cancer and causes tumors to light up in a scanning machine.
Key Piece of MRSA Vaccine Puzzle
New research funded by the Health Research Board and the Wellcome Trust has pinpointed immune cells that could be targeted by an MRSA vaccine.
Skyscraper Banner

Skyscraper Banner
Go to LabTube
Go to eposters
Access to the latest scientific news
Exclusive articles
Upload and share your posters on ePosters
Latest presentations and webinars
View a library of 1,800+ scientific and medical posters
2,800+ scientific and medical posters
A library of 2,500+ scientific videos on LabTube
4,000+ scientific videos